Linked Data
ClinVar Variation Id:
866115
dbSNP Id:
rs779585931
ExAC:
1:94463428 T / C
gnomAD v2:
1-94463428-T-C
gnomAD v3:
1-93997872-T-C
gnomAD v4:
1-93997872-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.93997872T>C , CM000663.2:g.93997872T>C | GRCh38 |
| NC_000001.10:g.94463428T>C , CM000663.1:g.94463428T>C | GRCh37 |
| NC_000001.9:g.94236016T>C | NCBI36 |
| NG_009073.1:g.128278A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6718A>G MANE Select | ENSP00000359245.3:p.Thr2240Ala | |
| ENST00000370225.3:c.6718A>G | ENSP00000359245.3:p.Thr2240Ala | |
| ENST00000536513.5:c.3094A>G | ENSP00000439707.2:p.Thr1032Ala | |
| NM_000350.2:c.6718A>G | NP_000341.2:p.Thr2240Ala | |
| NM_000350.3:c.6718A>G MANE Select | NP_000341.2:p.Thr2240Ala |